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FARAFARA Cure FA

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia

Cardiomyopathy is the leading cause of death in Friedreich's ataxia. This autosomal recessive disease is caused by a homozygous guanine-adenine-adenine trinucleotide repeat expansion in the frataxin gene (chromosome 9q21). One untoward effect of frataxin deficiency is the lack of iron (Fe)-sulfur clusters. Progressive remodeling of the heart in FA, however, may be more specifically related to sarcoplasmic Fe overload.

Read More: Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia


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Jen Farmer

Jen Farmer

Executive Director

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